- Conradi–Hünermann syndrome
Conradi-Hünermann syndrome Classification and external resources ICD-10 Q77.3 ICD-9 756.59 OMIM 302960 DiseasesDB 32527
Conradi–Hünermann syndrome (also known as "Conradi–Hünermann–Happle syndrome":500, "Happle syndrome," and "X-linked dominant chondrodysplasia punctata") is a type of chondrodysplasia punctata. It is associated with the gene EBP (gene) and affects between one in 100,000 and one in 200,000 babies.
Conradi-Hunermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones. Conradi-Hunermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases, mental retardation may also be present. While evidence suggests that Conradi-Hunermann syndrome predominantly occurs in females and is usually inherited as an X-linked dominant trait, rare cases in which males were affected have also been reported.
The genetics of Conradi-Hunermann syndrome has perplexed medical geneticists, pediatricians and dermatologists for some time, but a number of perplexing features of the genetics of the syndrome have now been resolved, including the fact that the disease is caused by mutations in a gene, and these mutations are simple substitutions, deletions or insertions and are therefore not "unstable". Scientists are still trying to understand exactly where the mutation occurs so that they can correct it.
Possible symptoms include
- Growth deficiency,
- Low nasal bridge,
- Flat face,
- Down-slanting space between eyelids,
- Asymmetric limb shortness,
- Joint shortening or spasms,
- Frequent scoliosis,
- Abnormal redness of the skin,
- Thick scales on infant skin,
- Large skin pores,
- Flaky Skin,
- Sparse hair,
- Coarse hair, and
- Bald spots.
Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. Most female patients with the syndrome to it can live a long and normal life, while males have only survived in rare cases.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ a b Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V (2008). "Two novel EBP mutations in Conradi-Hünermann-Happle syndrome". Eur J Dermatol 18 (4): 391–3. doi:10.1684/ejd.2008.0433. PMID 18573709. http://www.john-libbey-eurotext.fr/medline.md?issn=1167-1122&vol=18&iss=4&page=391.
- ^ Steijlen PM, van Geel M, Vreeburg M, et al. (December 2007). "Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome". Br. J. Dermatol. 157 (6): 1225–9. doi:10.1111/j.1365-2133.2007.08254.x. PMID 17949453. http://www.blackwell-synergy.com/openurl?genre=article&sid=nlm:pubmed&issn=0007-0963&date=2007&volume=157&issue=6&spage=1225.
- GeneReviews/NCBI/NIH/UW entry on Chondrodysplasia Punctata 2, X-Linked, Conradi-Hünermann Syndrome, Happle Syndrome
Osteochondrodysplasia (Q77–Q78, 756.4–756.5) Osteodysplasia/
(including dwarfism)Other dwarfism
Sex linkage: X-linked disorders X-linked recessive Immune Hematologic Endocrine Metabolicmineral: Menkes disease/Occipital horn syndrome Nervous system
X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndromeCharcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2
Skin and related tissue Neuromuscular Urologic Bone/tooth No primary system X-linked dominant Inborn error of steroid metabolism Mevalonate pathway To cholesterol SteroidsTo androgensTo estrogensAromatase deficiencyOther
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